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Isabelle Audo

Showing results (211-220 of 234) with videos related to

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Investigative Ophthalmology & Visual Science|June 4, 2024
Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration QuestionnaireBela Parekh, Jacque L Duncan, Lassana Samarakoon, et al.
American Journal of Ophthalmology|August 25, 2022
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease SeverityEleonora M Lad, Jacque L Duncan, Wendi Liang, et al.
Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, et al.
Investigative Ophthalmology & Visual Science|February 5, 2025
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene PollKari Branham, Lassana Samarakoon, Isabelle Audo, et al.
American Journal of Ophthalmology|March 6, 2022
Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5Maria A Parker, Laura R Erker, Isabelle Audo, et al.
American Journal of Ophthalmology|December 3, 2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical featuresGaël Manes, Tremeur Guillaumie, Werner L Vos, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophiesGaël Manes, Isabelle Meunier, Almudena Avila-Fernández, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
American Journal of Human Genetics|November 10, 2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Susanne Kohl, Bart P Leroy, et al.
Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.
Pageof 24

Showing results (211-220 of 234) with videos related to

Sort By:
Pageof 24
Investigative Ophthalmology & Visual Science|June 4, 2024
Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration QuestionnaireBela Parekh, Jacque L Duncan, Lassana Samarakoon, et al.
American Journal of Ophthalmology|August 25, 2022
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease SeverityEleonora M Lad, Jacque L Duncan, Wendi Liang, et al.
Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, et al.
Investigative Ophthalmology & Visual Science|February 5, 2025
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene PollKari Branham, Lassana Samarakoon, Isabelle Audo, et al.
American Journal of Ophthalmology|March 6, 2022
Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5Maria A Parker, Laura R Erker, Isabelle Audo, et al.
American Journal of Ophthalmology|December 3, 2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical featuresGaël Manes, Tremeur Guillaumie, Werner L Vos, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophiesGaël Manes, Isabelle Meunier, Almudena Avila-Fernández, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
American Journal of Human Genetics|November 10, 2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Susanne Kohl, Bart P Leroy, et al.
Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.
Pageof 24